ClinVar Miner

Variants studied for Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

Coded as:
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
15 6 93 87 17 205

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GAD1 1 2 83 85 15 174
HPDL 12 4 3 1 0 19
GAD1, LOC132088794 0 0 5 1 2 8
GAD1, LOC129935083 0 0 2 0 0 2
HPDL, LOC129930439 1 0 0 0 0 1
HPDL, LOC129930440 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 1 45 82 8 137
Illumina Laboratory Services, Illumina 0 0 46 4 13 63
OMIM 12 0 1 0 0 13
Baylor Genetics 1 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 1 0 1
Centre de recherche CHU de Quebec-Universite Laval, Laval University 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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